COSMIC:
COSM3757985 (not active)
COSM3757986 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45489938 (AFR)
Genomes Max Group AF
0.44909862 (AFR)
Exomes Max Group AF
0.45834655 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223998125A>G , CM000664.2:g.223998125A>G | GRCh38 |
| NC_000002.11:g.224862842A>G , CM000664.1:g.224862842A>G | GRCh37 |
| NC_000002.10:g.224571086A>G | NCBI36 |
| NG_032907.1:g.46195T>C | |
| NG_032907.2:g.46195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258405.9:c.477T>C | ENSP00000258405.4:p.Asn159= | |
| ENST00000409304.6:c.477T>C MANE Select | ENSP00000386412.1:p.Asn159= | |
| ENST00000258405.8:c.477T>C | ENSP00000258405.4:p.Asn159= | |
| ENST00000409304.5:c.477T>C | ENSP00000386412.1:p.Asn159= | |
| ENST00000409840.7:c.477T>C | ENSP00000386969.3:p.Asn159= | |
| ENST00000432738.5:c.477T>C | ENSP00000408452.1:p.Asn159= | |
| ENST00000447280.6:c.513T>C | ENSP00000415786.2:p.Asn171= | |
| NM_001136528.1:c.477T>C | NP_001130000.1:p.Asn159= | |
| NM_001136530.1:c.513T>C | NP_001130002.1:p.Asn171= | |
| NM_006216.3:c.477T>C | NP_006207.1:p.Asn159= | |
| NR_073116.1:n.1138T>C | ||
| XM_005246641.2:c.513T>C | XP_005246698.1:p.Asn171= | |
| XM_005246642.2:c.477T>C | XP_005246699.1:p.Asn159= | |
| XM_017004330.1:c.477T>C | XP_016859819.1:p.Asn159= | |
| XM_017004332.2:c.477T>C | XP_016859821.1:p.Asn159= | |
| NM_001136528.2:c.477T>C MANE Select | NP_001130000.1:p.Asn159= | |
| NM_006216.4:c.477T>C | NP_006207.1:p.Asn159= | |
| NR_073116.2:n.1138T>C |